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LiU researchers find the gene triggering glaucoma

It’s a mutation in a gene that causes glaucoma, according to collaborative research between Swedish, Tunisian, and American researchers. The results have just been published in Nature Genetics.

Peter Söderkvist.The most common form of glaucoma, called open angle glaucoma, is a disorder that affects more than 16 million people worldwide. The nerve fibre layer of the optic nerve slowly atrophies, which leads to a deterioration of wide-angle vision and can even gradually lead to serious visual impairment.

Previously, it was thought that glaucoma was caused by high pressure in the eye. However Peter Söderkvist and Mounira Hmani-Aifa from the Faculty of Health Sciences at LiU (HU), in collaboration with Tunisian and American researchers, have now been able to identify the gene that triggers the disease. PRSS56 is a serine protease (an enzyme that disassembles other proteins using the amino acid serine) yet it is still unknown which protein(s) are the substrate for PRSS56.

Tunisian families suffering from both glaucoma and microphthalmia (underdeveloped eyeballs) were studied, and the work successfully identified the gene that mutated, causing the disorder. The American research group participating in the study also mutated the gene in mice and obtained similar effects.

The result appears as part of a bilateral collaboration between the Centre for Biotechnology in Sfax, Tunisia, and the Faculty of Health Sciences in Linköping, a collaboration dealing precisely with research on families and genetic disorders. The project is supported both by the Swedish Research Council and The Swedish Internataional Development Cooperation Agency (Sida)

Text: Monica Westman Svenselius


2011-05-26




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Last updated: 2012-12-10